Central Diabetes Insipidus Association with Rare Chromosomal Anomaly Trisomy 9p and Monosomy 18q
نویسندگان
چکیده
منابع مشابه
Precocious puberty associated with partial trisomy 18q and monosomy 11q.
We report a 10-years-old female patient with a partial trisomy 18q and monosomy 11q due to a maternal translocation. The phenotype of our proband is partially common with Jacobsen syndrome and duplication 18q but she has also some atypical anomalies such as precocious puberty, a retinal albinism and hypermetropia. Based on cytogenetics and FISH analysis, the karyotype of the proband was 46,XX,d...
متن کاملPrenatal detection of monosomy 18p and trisomy 18q mosaicism with unexpected fetal phenotype.
A mosaic karyotype 46,XX,del(18)(p11)/46,XX,-18,+?i(18q) was found in cultured amniotic cells. Fetal blood sampling confirmed the presence of both cell lines. The pregnancy was terminated and the two cell lines were demonstrated in varying proportions in the fetal tissues. The few abnormal features seen in the fetus may represent a mild expression of the 18p-- phenotype inhibiting the effects o...
متن کاملCentral diabetes insipidus: an unusual complication in a child with juvenile myelomonocytic leukemia and monosomy 7.
Central diabetes insipidus (DI) is well-documented as a presenting feature of myelodysplastic syndrome and acute myeloid leukemia in adults. However, DI is unusual in pediatric patients with myeloid malignancies. We report here this rare complication in a child with neurofibromatosis type 1 who developed juvenile myelomonocytic leukemia and monosomy 7. Our case and previously reported cases of ...
متن کاملLangerhans Cell Histiocytosis: A Rare Cause of Central Diabetes Insipidus
Central diabetes insipidus (CDI) is a disorder that is characterized by polyuria, polydipsia and the presence of hypotonic urine as a result of the inability to secrete or to synthesize vasopressin in the neurohypophyseal system [1]. The etiology of CDI comprises a variety of diseases that infiltrate and destroy the posterior pituitary, pituitary stalk, or hypothalamus. We report two young wome...
متن کاملCentral diabetes insipidus
Central diabetes insipidus (CDI), characterized by polyuria and polydipsia, is caused by deficiency of arginine vasopressin (AVP), an antidiuretic hormone which acts on V2 receptors in kidney to promote reabsorption of free water. CDI is classified into three subtypes; idiopathic, secondary and familial. A previous study suggests that infundibulo-neurohypophysitis might be an underlying cause o...
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ژورنال
عنوان ژورنال: Turkiye Klinikleri Journal of Case Reports
سال: 2018
ISSN: 2147-9291
DOI: 10.5336/caserep.2017-59209